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proteinuria AND congenital Nephrotic

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https://www.readbyqxmd.com/read/28943081/a-large-retrospective-review-of-persistent-proteinuria-in-children
#1
Chingying Chang-Chien, Gwo-Tsann Chuang, I-Jung Tsai, Bor-Luen Chiang, Yao-Hsu Yang
BACKGROUND: Proteinuria is a common finding in children. It may be due to a benign cause, but it can also represent early renal injury. Of children with persistent proteinuria noted in mass urine screening programs, 35% have a urine protein level greater than 100 mg/dl and many of them are associated with many underlying renal diseases. The aim of this study was to identify the etiology and prognosis of persistent proteinuria in children. METHODS: We collected data on urine protein from January 2011 to December 2016 in a tertiary medical center...
September 21, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28914167/nephrotic-syndrome-in-infants-and-children-pathophysiology-and-management
#2
Mallory L Downie, Claire Gallibois, Rulan S Parekh, Damien G Noone
Nephrotic syndrome is defined by nephrotic-range proteinuria (≥40 mg/m(2)/hour or urine protein/creatinine ratio ≥200 mg/mL or 3+ protein on urine dipstick), hypoalbuminaemia (<25 g/L) and oedema. This review focuses on the classification, epidemiology, pathophysiology, management strategies and prognosis of idiopathic nephrotic syndrome of childhood, and includes a brief overview of the congenital forms.
September 15, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/28759637/pituitary-adenylate-cyclase-activating-polypeptide-pacap-in-zebrafish-models-of-nephrotic-syndrome
#3
Benedicte Eneman, Mohamed A Elmonem, Lambertus P van den Heuvel, Laleh Khodaparast, Ladan Khodaparast, Chris van Geet, Kathleen Freson, Elena Levtchenko
Pituitary adenylate cyclase-activating polypeptide (PACAP) is an inhibitor of megakaryopoiesis and platelet function. Recently, PACAP deficiency was observed in children with nephrotic syndrome (NS), associated with increased platelet count and aggregability and increased risk of thrombosis. To further study PACAP deficiency in NS, we used transgenic Tg(cd41:EGFP) zebrafish with GFP-labeled thrombocytes. We generated two models for congenital NS, a morpholino injected model targeting nphs1 (nephrin), which is mutated in the Finnish-type congenital NS...
2017: PloS One
https://www.readbyqxmd.com/read/28665076/congenital-syphilis-presenting-with-only-nephrotic-syndrome-reemergence-of-a-forgotten-disease
#4
Yun Hee Kim, Ji Ho Song, Chan Jong Kim, Eun Mi Yang
Syphilis infection has re-emerged after years of declining incidence. The prevalence of congenital syphilis (CS) has increased in Korea and other countries during the last few decades. Untreated infants develop symptoms such as rhinorrhea, anemia, jaundice, cutaneous lesions, hepatosplenomegaly, and pseudoparalysis within weeks or months. Significant renal disease is uncommon in CS, and clinical renal involvement varies from mild transient proteinuria to frank nephrosis. We report a 2-month-old infant with CS who presented with only nephrotic syndrome (NS)...
August 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28507377/spontaneous-evisceration-of-umbilical-hernia-in-a-patient-with-congenital-nephrotic-syndrome
#5
Nilufer Goknar, Gokhan Gundogdu, Mehmet Kucukkoc, Aysegul Dogan Demir, Aysel Vehapoglu, Faruk Oktem
Congenital nephrotic syndrome is a term used to describe a condition in babies who develop severe proteinuria and hypoalbuminaemia within their first three months of life. They generally have oedema and ascites from birth which, because of increased intra-abdominal pressure, can result in an umbilical hernia. The report presents a five-month old infant with congenital nephrotic syndrome who had spontaneous umbilical hernia rupture with evisceration. The approach to umbilical hernias is usually conservative, but in selected cases elective surgery may be indicated...
May 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28386663/a-child-with-phenylketonuria-and-focal-segmental-glomerulosclerosis-the-bright-side-of-proteinuria
#6
Fatma Rabah, Khalid Al-Thihli, Mohamed El-Naggari, Ibtisam B Elnour
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Phenylalanine hydroxylase is the underlying deficient enzyme. If left untreated, growth failure, microcephaly, global developmental delay, seizures and severe intellectual impairment would characterize the clinical picture of PKU. On the other side of protein homeostasis lies nephrotic syndrome. It is a well-known quantitative defect due to significant proteinuria. Focal segmental glomerulosclerosis (FSGS) is a special congenital variant affecting children and adults...
August 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28228401/wolf-hirschhorn-syndrome-candidate-1-like-1-epigenetically-regulates-nephrin-gene-expression
#7
Yugo Ito, Kan Katayama, Yukino Nishibori, Yoshihiro Akimoto, Akihiko Kudo, Ryota Kurayama, Ichiro Hada, Shohei Takahashi, Toru Kimura, Toshiyuki Fukutomi, Tomohisa Katada, Junichi Suehiro, Olga Beltcheva, Karl Tryggvason, Kunimasa Yan
Altered expression of nephrin underlies the pathophysiology of proteinuria in both congenital and acquired nephrotic syndrome. However, the epigenetic mechanisms of nephrin gene regulation remain elusive. Here, we show that Wolf-Hirschhorn syndrome candidate 1-like 1 long form (WHSC1L1-L) is a novel epigenetic modifier of nephrin gene regulation. WHSC1L1-L was associated with histone H3K4 and H3K36 in human embryonic kidney cells. WHSC1L1-L gene was expressed in the podocytes, and functional protein product was detected in these cells...
June 1, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28204945/spectrum-of-mutations-in-chinese-children-with-steroid-resistant-nephrotic-syndrome
#8
Fang Wang, Yanqin Zhang, Jianhua Mao, Zihua Yu, Zhuwen Yi, Li Yu, Jun Sun, Xiuxiu Wei, Fangrui Ding, Hongwen Zhang, Huijie Xiao, Yong Yao, Weizhen Tan, Svjetlana Lovric, Jie Ding, Friedhelm Hildebrandt
BACKGROUND: The aim of this study was to elucidate whether genetic screening test results of pediatric patients with steroid-resistant nephrotic syndrome (SRNS) vary with ethnicity. METHODS: Using high-throughput DNA sequencing, 28 nephrotic syndrome-related genes were analyzed in 110 chil-dren affected by SRNS and 10 children with isolated proteinuria enrolled by 5 centers in China (67 boys, 53 girls). Their age at disease onset ranged from 1 day to 208 months (median, 48...
July 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27757175/sonographic-diagnosis-in-a-rare-aetiology-of-neonatal-scrotal-swellings-a-case-report-of-congenital-nephrotic-syndrome
#9
Shabnam Bhandari Grover, Nishith Kumar, Hemal Grover, Dinesh Kumar Taneja, Amit Katyan
BACKGROUND: Common etiologies of scrotal swelling in neonates include hydrocoele, inguinal hernia and testicular torsion; less common is epididymo-orchitis. Congenital nephrotic syndrome (CNS), a rare entity, is known to present as progressive renal failure and its leading presentation with scrotal involvement has not been reported. MATERIAL/METHODS: We report a rare case of CNS with primary clinical presentation as scrotal cellulitis and epididymo-orchitis. In this neonate, scrotal and abdominal ultrasound examination was performed and the laboratory data were obtained...
2016: Polish Journal of Radiology
https://www.readbyqxmd.com/read/27669128/diagnosis-of-congenital-and-infantile-nephrotic-syndromes-in-renal-biopsies-in-minas-gerais-brazil-six-case-reports
#10
Laura Penna Rocha, Fabiano Bichuette Custódio, Juliana Reis Machado, Lívia Helena de Morais Pereira, Maria Luiza Gonçalves Dos Reis Monteiro, Valéria Lima Laterza, Marlene Antônia Dos Reis, Rosana Rosa Miranda Corrêa
Congenital or infantile nephrotic syndromes (CNS/INS) correspond to a heterogeneous group of rare diseases in which glomerular renal dysfunction and proteinuria are prominent. The aim of this study is to present six cases of possible CNS/INS with diagnoses based on clinical findings and especially histological, ultrastructural, and immunohistochemical characteristics of renal biopsies. Four cases are presented with diffuse mesangial sclerosis, one of them possibly part of Denys-Drash syndrome and two cases with CNS probably of the Finnish type in patients between 3 months old and 13 years old...
November 2016: Ultrastructural Pathology
https://www.readbyqxmd.com/read/27594755/congenital-nephrotic-syndrome-finish-type
#11
Lidvana Spahiu, Besart Merovci, Haki Jashari, Arbnore Batalli Këpuska, Blerta Elezi Rugova
INTRODUCTION: Identification of the NPHS1 gene, which encodes nephrin, was followed by many studies demonstrating its mutation as a frequent cause of congenital nephrotic syndrome (CNS). While this gene is found in 98% of Finnish children with this syndrome, non-Finnish cases have lower level of incidence ranging from 39 to 80%. CASE REPORT: This report describes the clinical presentation of a two-week-old neonate who presented with periorbital and lower extremities edema, abdominal distention, heavy proteinuria, serum hypoproteinemia and failure to thrive...
June 2016: Medical Archives
https://www.readbyqxmd.com/read/27414023/the-fatty-kidney-obesity-and-renal-disease
#12
Manuel Praga, Enrique Morales
Obesity-related glomerulopathy (ORG) is characterized by glomerulomegaly accompanied in many patients by lesions of focal and segmental glomerulosclerosis. Slowly increasing subnephrotic proteinuria is the commonest presentation of ORG. Occasionally, massive proteinuria (>5-10 g/day) is detected, but the typical findings of nephrotic syndrome are characteristically absent even in patients with massive proteinuria. Superimposed obesity can fuel the progression of other renal diseases, and a reduced number of functioning nephrons (of congenital or acquired causes) synergizes with obesity to induce end-stage renal disease...
2017: Nephron
https://www.readbyqxmd.com/read/27325525/congenital-nephrotic-syndrome-in-an-infant-with-alg1-congenital-disorder-of-glycosylation
#13
Lyndsay A Harshman, Bobby G Ng, Hudson H Freeze, Pamela Trapane, Anna Dolezal, Patrick D Brophy, Jane E Brumbaugh
Congenital nephrotic syndrome (NS) in the newborn is most frequently related to mutations in genes specific for structural integrity of the glomerular basement membrane and associated filtration structures within the kidney, resulting in massive leakage of plasma proteins into the urine. Occurrence of congenital NS in a multi-system syndrome is less common. We describe the case of an infant with deteriorating neurological status, seizures, edema, and proteinuria who was found to have a mutation in gene ALG1 and a renal biopsy consistent with congenital NS...
August 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/27270328/mc1r-is-dispensable-for-the-proteinuria-reducing-and-glomerular-protective-effect-of-melanocortin-therapy
#14
Yingjin Qiao, Anna-Lena Berg, Pei Wang, Yan Ge, Songxia Quan, Sijie Zhou, Hai Wang, Zhangsuo Liu, Rujun Gong
Melanocortin therapy by using adrenocorticotropic hormone (ACTH) or non-steroidogenic melanocortin peptides attenuates proteinuria and glomerular injury in experimental glomerular diseases and induces remission of nephrotic syndrome in patients with diverse glomerulopathies, even those resistant to steroids. The underlying mechanism remains elusive, but the role of melanocortin 1 receptor (MC1R) has been implicated and was examined here. Four patients with congenital red hair color and nephrotic syndrome caused by idiopathic membranous nephropathy or focal segmental glomerulosclerosis were confirmed by gene sequencing to bear dominant-negative MC1R mutations...
2016: Scientific Reports
https://www.readbyqxmd.com/read/26986510/cdc42-deficiency-induces-podocyte-apoptosis-by-inhibiting-the-nwasp-stress-fibers-yap-pathway
#15
Z Huang, L Zhang, Y Chen, H Zhang, Q Zhang, R Li, J Ma, Z Li, C Yu, Y Lai, T Lin, X Zhao, B Zhang, Z Ye, S Liu, W Wang, X Liang, R Liao, W Shi
Podocyte apoptosis is a major mechanism that leads to proteinuria in many chronic kidney diseases. However, the concert mechanisms that cause podocyte apoptosis in these kidney diseases are not fully understood. The Rho family of small GTPases has been shown to be required in maintaining podocyte structure and function. Recent studies have indicated that podocyte-specific deletion of Cdc42 in vivo, but not of RhoA or Rac1, leads to congenital nephrotic syndrome and glomerulosclerosis. However, the underlying cellular events in podocyte controlled by Cdc42 remain unclear...
March 17, 2016: Cell Death & Disease
https://www.readbyqxmd.com/read/26961288/the-etiology-of-congenital-nephrotic-syndrome-current-status-and-challenges
#16
REVIEW
Jing-Jing Wang, Jian-Hua Mao
BACKGROUND: Congenital nephrotic syndrome (CNS), defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia and edema presenting in the first 0-3 months of life, may be caused by congenital syphilis, toxoplasmosis, or congenital viral infections (such as cytomegalovirus). However, the majority of CNS cases are caused by monogenic defects of structural proteins that form the glomerular filtration barrier in the kidneys. Since 1998, an increasing number of genetic defects have been identified for their involvements in the pathogenesis of CNS, including NPHS1, NPHS2, WT1, PLCE1, and LAMB2...
May 2016: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/26668027/rapid-response-to-cyclosporin-a-and-favorable-renal-outcome-in-nongenetic-versus-genetic-steroid-resistant-nephrotic-syndrome
#17
MULTICENTER STUDY
Anja K Büscher, Bodo B Beck, Anette Melk, Julia Hoefele, Birgitta Kranz, Daniel Bamborschke, Sabrina Baig, Bärbel Lange-Sperandio, Theresa Jungraithmayr, Lutz T Weber, Markus J Kemper, Burkhard Tönshoff, Peter F Hoyer, Martin Konrad, Stefanie Weber
BACKGROUND AND OBJECTIVES: Treatment of congenital nephrotic syndrome (CNS) and steroid-resistant nephrotic syndrome (SRNS) is demanding, and renal prognosis is poor. Numerous causative gene mutations have been identified in SRNS that affect the renal podocyte. In the era of high-throughput sequencing techniques, patients with nongenetic SRNS frequently escape the scientific interest. We here present the long-term data of the German CNS/SRNS Follow-Up Study, focusing on the response to cyclosporin A (CsA) in patients with nongenetic versus genetic disease...
February 5, 2016: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/26613025/a-col4a5-mutation-with-glomerular-disease-and-signs-of-chronic-thrombotic-microangiopathy
#18
Matthias Wuttke, Maximilian Seidl, Angelica Malinoc, Friedrich C Prischl, E Wolfgang Kuehn, Gerd Walz, Anna Köttgen
COL4A5 mutations are a known cause of Alport syndrome, which typically manifests with haematuria, hearing loss and ocular symptoms. Here we report on a 16-year-old male patient with a negative family history who presented with proteinuria, progressive renal failure and haemolysis, but without overt haematuria or hearing loss. A renal biopsy revealed features of atypical IgA nephropathy, while a second biopsy a year later showed features of focal segmental glomerulosclerosis, but was finally diagnosed as chronic thrombotic microangiopathy...
December 2015: Clinical Kidney Journal
https://www.readbyqxmd.com/read/26560236/nphs1-gene-mutations-confirm-congenital-nephrotic-syndrome-in-four-brazilian-cases-a-novel-mutation-is-described
#19
Mara S Guaragna, Thaís Lira Cleto, Marcela Lopes Souza, Anna Cristina G B Lutaif, Luiz Cláudio Gonçalves de Castro, Maria Goretti Moreira Guimarães Penido, Andréa T Maciel-Guerra, Vera M S Belangero, Gil Guerra-Junior, Maricilda P De Mello
AIM: Autosomal recessive mutations in NPHS1 gene are a common cause of congenital nephrotic syndrome (CNS). The disorder is characterized by massive proteinuria that manifests in utero or in the neonatal period during the first 3 months of life. NPHS1 encodes nephrin, a member of the immunoglobulin family of cell adhesion molecules and the main protein expressed at the renal slit diaphragm. Currently, there are approximately 250 mutations described in the NPHS1 gene distributed among all nephrin domains...
September 2016: Nephrology
https://www.readbyqxmd.com/read/25983997/remission-of-membranoproliferative-glomerulonephritis-associated-with-a-noncirrhotic-portosystemic-shunt-after-percutaneous-transhepatic-portal-vein-embolization
#20
Nobuhiko Okamoto, Sawako Fukazawa, Masafumi Shimamoto, Rie Yamamoto, Yuichiro Fukazawa
We present a case of a 75-year-old man with nephrotic syndrome and renal insufficiency caused by immune complex-mediated secondary membranoproliferative glomerulonephritis. He developed hepatic encephalopathy. A congenital portosystemic shunt was identified, indicating a diagnosis of membranoproliferative glomerulonephritis with noncirrhotic portosystemic shunt. Proteinuria resolved after shunt ratio reduction by percutaneous transhepatic portal vein embolization. Renal function and histopathological findings improved without immunosuppressive therapy...
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